Department of Internal Medicine, Medical School, University of Ioannina, 45110, Ioannina, Greece.
Int Urol Nephrol. 2018 Jan;50(1):91-96. doi: 10.1007/s11255-017-1653-4. Epub 2017 Jul 25.
Gitelman syndrome is the most common inherited tubular disease resulting from mutations of the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter in the early distal convoluted tubules. The review presents the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalities observed in patients with Gitelman syndrome. The syndrome is usually characterized by hypokalemic metabolic alkalosis in combination with hypomagnesemia and hypocalciuria. Additionally, increased chloride excretion and renin/aldosterone levels, hypophosphatemia (occasionally), hyponatremia (rarely) and glucose intolerance/insulin resistance have been reported. The knowledge of the pathophysiologic mechanisms is useful for the treatment of patients with Gitelman syndrome as well as for the understanding of other tubular diseases.
Gitelman 综合征是最常见的遗传性肾小管疾病，源于编码早期远曲小管噻嗪敏感的钠-氯共转运体的 SLC12A3 基因突变。本综述介绍了 Gitelman 综合征患者中观察到的酸碱和电解质异常的潜在病理生理机制。该综合征通常表现为低钾代谢性碱中毒，同时伴有低镁血症和低钙尿症。此外，还报道了氯离子排泄增加、肾素/醛固酮水平升高、低磷血症（偶尔）、低钠血症（罕见）以及葡萄糖耐量异常/胰岛素抵抗。了解病理生理机制对于 Gitelman 综合征患者的治疗以及其他管状疾病的理解均非常有用。
